Pompe disease GAA variant database
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Link to variant Link to patients Location DNA nomenclature RNA nomenclature Protein nomenclature Predicted severity Phenotype with null allele CRIM status Number of patients
Variant info Patients:1 exon 2 c.505C>A r.(505c>a) p.(Leu169Met) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.506T>C r.(506u>c) p.(Leu169Pro) Unknown Classic infantile Positive 1
Variant info Patients:0 exon 2 c.510C>T r.(510c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients: exon 2 c.517_519del r.(517_519del) p.(Met173del) Potentially less severe Childhood Positive
Variant info Patients:154 exon 2 c.525del r.(525del) p.(Glu176Argfs*45) Very severe Classic infantile Negative 154
Variant info Patients:4 exon 2 c.525_526del r.(525_526del) p.(Asn177Profs*11) Very severe Classic infantile Negative 4
Variant info Patients:0 exon 2 c.532C>T r.(532c>u) p.(Arg178Cys) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 2 c.533G>A r.(533g>a) p.(Arg178His) Unknown Unknown (found only in NBS) Positive 2
Variant info Patients:0 exon 2 c.541_545del r.(541_545del) p.(Phe181Aspfs*6) very severe Classic infantile Unknown 0
Variant info Patients:3 exon 2 c.546G>A r.[(546g>a), r.(spl?)] p.[(=), p.?] Potentially mild Adult Unknown 3
Variant info Patients:21 exon 2 c.546G>T r.[-32_546del,546g>u,546g>u; 546_547ins546+1_546+184] p.[=,0, Ile183Valfs*67] Potentially mild Childhood or Adult Unknown 21
Variant info Patients:2 exon 2 c.546G>C r.[(546g>c), r.(spl?)] p.[(=), p.?] Potentially mild Unknown (disease-associated) Unknown 2
Variant info Patients:3 intron 2 c.546+1G>T r.spl p.? Very severe Unknown (disease-associated) Unknown 3
Variant info Patients:1 intron 2 c.546+2T>C r.spl p.? Very severe Classic infantile Negative 1
Variant info Patients:5 intron 2 c.546+2_546+5del r.spl p.? Very severe Classic infantile Negative 5
Variant info Patients:2 intron 2 c.546+5G>T r.(spl?) p.? Unknown Unknown (found only in NBS) Unknown 2
Variant info Patients:0 intron 2 c.546+24G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.546+45G>C r.(=) p.? Unknown Unknown Positive 0
Variant info Patients:0 intron 2 c.546+293G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-243C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-238T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-67C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-39T>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-4C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 2 c.547-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 3 c.568C>T r.(568c>u) p.(Arg190Cys) potentially less severe Unknown (disease-associated) Unknown 0
Variant info Patients:6 exon 3 c.569G>A r.(569g>a) p.(Arg190His) Less severe Childhood Positive 6
Variant info Patients:1 exon 3 c.572A>G r.(572a>g) p.(Tyr191Cys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:7 exon 3 c.573C>A r.(573c>a) p.(Tyr191*) Very severe Classic infantile Negative 7
Variant info Patients:0 exon 3 c.596A>G r.(596a>g) p.(His199Arg) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 3 c.623T>C r.(623u>c) p.(Leu208Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 3 c.634G>T r.(634g>u) p.(Glu212*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 3 c.642C>T r.642c>u p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 3 c.650C>T r.(650c>u) p.(Pro217Leu) Less severe Classic infantile Positive 1
Variant info Patients:22 exon 3 c.655G>A r.(655g>a) p.(Gly219Arg) Potentially less severe Classic infantile Positive 22
Variant info Patients:0 exon 3 c.658G>T r.(658g>u) p.(Val220Leu) Non-pathogenic Unknown Positive 0
Variant info Patients:16 exon 3 c.664G>A r.(664g>a) p.(Val222Met) Non-pathogenic Unknown Positive 16
Variant info Patients:0 exon 3 c.665T>G r.(665u>g) p.(Val222Gly) potentially less severe Classic infantile Positive 0
Variant info Patients:0 exon 3 c.668G>A r.668g>a p.(Arg223His) Non-pathogenic Unknown Positive 0
Variant info Patients:7 exon 3 c.670C>T r.(670c>u) p.(Arg224Trp) Less severe Classic infantile or Childhood Positive 7
Variant info Patients:2 exon 3 c.671G>C r.(671g>c) p.(Arg224Pro) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 3 c.671G>A r.(671g>a) p.(Arg224Gln) Potentially less severe Adult Positive 1
Variant info Patients:2 exon 3 c.685_686insCGGC r.(685_686inscggc) p.(Arg229Profs*102) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 3 c.686G>C r.(686g>c) p.(Arg229Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 3 c.692T>C r.(692u>c) p.(Leu231Pro) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:2 intron 3 c.692+1G>C r.spl p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:1 intron 3 c.692+1G>T r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 3 c.692+1G>A r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:3 intron 3 c.692+5G>T r.(spl?) p.? Less severe Childhood or adult Unknown 3
Variant info Patients:0 exon 3 c.691C>T r.(691c>u) p.(Arg190Cys) very severe Unknown (disease-associated) Unknown 0
Variant info Patients:0 intron 3 c.692+38C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+144A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+509T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+674G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+751T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-586G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-585T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-559C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-491G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-441C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-434C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-414C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-413A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-216T>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-94C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-78C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-49C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-2A>C r.spl p.? very severe Classic infantile Unknown 0
Variant info Patients:1 intron 3 c.693-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 4 c.701C>G r.(701c>g) p.(Thr234Arg) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 4 c.701C>A r.(701c>a) p.(Thr234Lys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 4 c.705G>A r.(705g>a) p.(=) Unknown Unknown (found only in NBS) Positive 2
Variant info Patients:2 exon 4 c.710C>T r.(710c>u) p.(Ala237Val) Unknown Adult Positive 2
Variant info Patients:1 exon 4 c.715_716del r.(715_716del) p.(Leu239Valfs*90) very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 4 c.716del r.(716del) p.(Leu239Argfs*29) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 4 c.719T>C r.(719u>c) p.(Phe240Ser) Unknown Adult Positive 2
Variant info Patients:6 exon 4 c.722_723del r.(722_723del) p.(Phe241Cysfs*88) Very severe Classic infantile Negative 6
Variant info Patients:0 exon 4 c.725C>T r.(725c>u) p.(Ala242Val) Potentially mild Unknown Positive 0
Variant info Patients:1 exon 4 c.730C>T r.(730c>u) p.(Gln244*) very severe Classic infantile Unknown 1
Variant info Patients:1 exon 4 c.736del r.(736del) p.(Leu246Phefs*22) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 4 c.737T>G r.(737u>g) p.(Leu246Arg) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 4 c.742del r.(742del) p.(Leu248Profs*20) Very severe Classic infantile Negative 3
Variant info Patients:2 exon 4 c.743T>G r.(743u>g) p.(Leu248Arg) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 4 c.743T>C r.(743u>c) p.(Leu248Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:26 exon 4 c.[752C>T; c.761C>T] r.[(752c>u); (761c>u)] p.[(Ser251Leu); (Ser254Leu)] Presumably non-pathogenic Unknown (disease-associated) Positive 26
Variant info Patients:1 exon 4 c.756_757insT r.(756_757insu) p.(Pro253Serfs*77) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 4 c.759del r.(759del) p.(Ser254Argfs*14) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 4 c.763C>T r.(763c>u) p.(Gln255*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 4 c.766_784del r.(766_784del) p.(Tyr256Serfs*6) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:4 exon 4 c.766_785delinsC r.(766_785delinsc) p.(Tyr256Argfs*6) Very severe Unknown (disease-associated) Negative 4
Variant info Patients:0 exon 4 c.768dup r.(768dup) p.(Ile257Tyrfs*73) Very severe Unknown Negative 0
Variant info Patients:0 exon 4 c.776G>T r.(776g>u) p.(Gly259Val) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 4 c.781G>A r.(781g>a) p.(Ala261Thr) potentially less severe Classic infantile Positive 1
Variant info Patients:22 exon 4 c.784G>A r.(784g>a) p.(Glu262Lys) Potentially less severe Classic infantile Positive 22
Variant info Patients:1 exon 4 c.784G>C r.(784g>c) p.(Glu262Gln) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 4 c.794del r.(794del) p.(Ser265Ilefs*3) Very severe Classic infantile Negative 3
Variant info Patients:10 exon 4 c.796C>T r.(796c>u) p.(Pro266Ser) Potentially mild Classic infantile Positive 10
Variant info Patients:1 exon 4 c.796C>A r.(796c>a) p.(Pro266Thr) Potentially less severe Childhood Unknown 1
Variant info Patients:1 exon 4 c.799_803delinsA r.(799_803delinsa) p.(Leu267Serfs*46) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 4 c.811A>G r.(811a>g) p.(Thr271Ala) Non-pathogenic Unknown (found only in NBS) Positive 1

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854

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